Volume 17, Issue 2 (Summer 2020)                   Sci J Iran Blood Transfus Organ 2020, 17(2): 140-146 | Back to browse issues page

XML Persian Abstract Print

Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:
Rafat M, Shekari M, Namjoo E, Yazdi F, Malekzadeh K. A Case Report of Hb-Geelong in Hormozgan Province. Sci J Iran Blood Transfus Organ 2020; 17 (2) :140-146
URL: http://bloodjournal.ir/article-1-1321-en.html
A Case Report of Hb-Geelong in Hormozgan Province
M. Rafat , M. Shekari , E. Namjoo , F. Yazdi , Kianoosh Malekzadeh *
Keywords: beta-Thalassemia, Hemoglobin, Prenatal Diagnosis
Full-Text [PDF 480 kb]   (958 Downloads)     |   Abstract (HTML)  (2311 Views)
Full-Text:   (1307 Views)
References:
  1. Koutelekos J, Haliasos N. Depression and Thalassemia in children, adolescents and adults. Health Sci J 2013; 7(3): 239-46.
  2. Heydarnejad MS, Hasanpour-Dehkordi A. Effect of booklet and combined method on parents' awareness of children with β-thalassemia major disorder. Journal of the Pakistan Medical Association 2008; 58(9): 485-7.
  3. Naderi M, reza Hormozi M, Ashrafi M, Emamdadi A. Evaluation of mental health and related factors among patients with beta-thalassemia major in South East of Iran. Iran J Psychiatry 2012; 7(1): 47-51.
  4. Borhani F, Najafi MK, Rabori ED, Sabzevari S. The effect of family-centered empowerment model on quality of life of school–aged children with thalassemia major. Iran J Nurs Midwifery Res 2011; 16(4): 292-8.
  5. Parvizi S, Haghaani H, Sheibani B. Investigating the Awareness and Educational Requirements of Adolescents with Thalassemia and Active Members of the Afflicted Families in Bandar Abbas, Iran. Development Strategies in Medical Education 2017; 4(1): 68-75.
  6. Razzazan N, Ravanipour M, Jahanpour F, Zarei AR, Motamed N, Hosseini S. Investigating Challenges Facing Self-Management Empowerment Education in Adolescents and Youths with Major Thalassemia. Jundishapur J Chronic Dis Care 2014; 3(4): e23366.
  7. Olivieri NF. The β-thalassemias. N Engl J Med 1999; 341(2): 99-109.
 
  1. Kazazian HJ, Boehm CD. Molecular basis and prenatal diagnosis of beta-thalassemia. Blood 1988; 72(4): 1107-16.
  2. Como PF, Hocking DR, Swinton GW, Trent RJ, Holland RA, Tibben EA, et al. Hb Geelong [β139 (H17) Asn→ Asp]. Hemoglobin 1991; 15(1-2): 85-95.
  3. Harano T, Harano K, Xia GX, Shishime T, Kono M, Imai K. HB-Geelong [β139 (H17) ASN→ ASP] Found in a Japanese Male. Hemoglobin 1997; 21(4): 377-83.
  4. Moo-Penn WF, Johnson MH, Jue DL, Lonser R. Hb Hinsdale [β139 (H17) Asn→ Lys]: a variant in the central cavity showing reduced affinity for oxygen and 2, 3-diphosphoglycerate. Hemoglobin 1989; 13(5): 455-64.
  5. Nakanishi T, Miyazaki A, Kishikawa M, Shimizu A, Aoki Y, Kikuchi M. Hb Sagami (b139 (H17) ASn--> Thr): A new Hemoglobin Variant not Detected by Isoelectrofocusing and Proponal-2-ol Test, was Detected by Electrospray Ionization Mass Spectrometry. J Mass Spectrom 1998; 33(6): 565-9.
  6. Lafferty J, Ali M, Matthew K, Eng B, Patterson M, Waye JS. Identifican of A New High Oxygen Affinity Hemoglobin Variant: Hb Aurora [β139 (H17) Asn→
Tyr]. Hemoglobin 1995; 19(6): 335-41
  1. Najmabad H, Teymourian S, Jalilnezhad S, Azad M, Khatibi T, Neyshabouri M, et al. Amplification Refractory Mutation System (ARMS) and reverse hybridization in the detection of beta-thalassemia mutations. Arch Irn Med 2001; 4(4): 165-70.
  2. Das SK, Talukder G. Beta globin gene and related diseases: A review. Int J Hum Gen 2002; 2(3): 139-52.
  3. Kiani AA, Mortazavi Y, Zeinali S, Shirkhani Y. The molecular analysis of β-thalassemia mutations in Lorestan Province, Iran. Hemoglobin 2007; 31(3):
    343-9.
  4. Najmabadi H, Karimi-Nejad R, Sahebjam S, Pourfarzad F, Teimourian S, Sahebjam F, et al. The β-thalassemia mutation spectrum in the Iranian population. Hemoglobin 2001; 25(3): 285-96.
 
 
 
 
 
 
 

 
 
 
  1.  
 
 
 
Sci J Iran Blood Transfus Organ 2020; 17(2): 140-146
 
 
Case  report
 
 
 

A Case Report of Hb-Geelong in Hormozgan Province
 
Rafat M.1, Shekari1M.1,2, Namjoo E.1,2, Yazdi F.1,2, Malekzadeh K.1,2
 
 
1Faculty of Medicine, Hormozgan University of Medical Sciences, Bandar Abbas, Iran
2Genetics & Prenatal Diagnostic Lab, Hormozgan University of Medical Sciences, Bandar Abbas, Iran
 
 
 
Abstract
Background and Objectives
Thalassemia is a group of inherited hemoglobin disorders with defect in the synthesis of hemoglobin chains.
 
Case
The young couple resident in Bandar Abbas,  a 23 year old woman with MCV:63fl; MCH:19; HbA2:3.9  and  a 25 year old man with MCV:94fl; MCH:32; HbA2:2.1; HbF:36, were referred to the Bandar Abbas Medical Genetic & PND Center for genetic counselling before marriage.
 
Conclusions 
A rare CD139 mutation (AAT → GAT) was detected which led to substitution of Asparagine by Aspartic Acid in 139th amino acid in hemoglobin chain and created a hemoglobin variant named Hb Geelong. This is the first report for Hb-Geelong in Iran. It seems that this mutation affects the hemoglobin stability though a non-pathologic process and has a phenotype similar to minor β+ thalassemia.
 
Key words: beta-Thalassemia, Hemoglobin, Prenatal Diagnosis
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Received:  17 Dec 2019
Accepted: 27 Apr 2020
 
 
 

Correspondence: Malekzadeh K., PhD of Medicinal Genetics. Associated Professor of Faculty of Medicine, Hormozgan University of Medical Sciences and Genetics & Prenatal Diagnostic Lab.
P.O.Box: 79197-86848, Bandar Abbas, Iran. Tel: (+9876) 33710372-3; Fax: (+9876) 33710372-3
E-mail: keyanoosh@gmail.com
Type of Study: case report | Subject: Thalasemia
Published: 2020/06/30
Add your comments about this article : Your username or Email:
CAPTCHA
Send email to the article author

Rights and permissions
Creative Commons License This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

© 2025 CC BY-NC 4.0 | Scientific Journal of Iran Blood Transfus Organ

Designed & Developed by : Yektaweb